LEADERSHIP &
ADMINISTRATION
Executive Committee
Adeline L. Vanderver, MD
Children’s hospital of Philadelphia
Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) and the Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics. She is also Program Director of the Leukodystrophy Center of Excellence at CHOP.
Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children's National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.
Dr. Vanderver’s has helped clarify the molecular etiology over a dozen leukodystrophies and has contributed more than 100 peer reviewed manuscripts to the literature on leukodystrophies over the past decade. She has contributed to the development of new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families. In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, she will lead Project 4 and will co-direct Project 1 and Project 3.
Florian Eichler, MD
Massachusetts General Hospital
Florian Eichler, MD, is the Director of the Leukodystrophy Service and the Center for Rare Neurological Diseases at Massachusetts General Hospital (MGH), as well as an Associate Professor of Neurology at and Harvard Medical School. His laboratory explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration.
Dr. Eichler obtained his medical degree from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in Pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins he underwent residency training in Child Neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.
Dr. Eichler is the principal investigator of several NIH- funded studies on neurogenetic disorders, including a natural history study of Canavan Disease (NCT02851563), ALD (NCT03278899) as well as a gene therapy trial of adrenoleukodystrophy. He also serves as chair of the Rare Disease Think Tank at MGH and is founder of the international consortium ALD Connect, a patient powered research network. In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, he will co-direct Projects 1 and Project 2 and contribute to Project 4.
S. Ali fatemi, MD, MBA
Kennedy Krieger Institute
S. Ali Fatemi, MD, is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Division of Neurogenetics and the Moser Center for Leukodystrophies, and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute. Dr. Fatemi is also an associate professor of neurology and pediatrics at Johns Hopkins University.
Dr. Fatemi graduated from the Medical University of Vienna in Austria. He completed a postdoctoral fellowship under the mentorship of Hugo W. Moser, during which he developed neuroimaging studies for leukodystrophies. He received clinical training at SUNY Downstate, and Massachusetts General Hospital and returned to Kennedy Krieger Institute in 2008 as a faculty member. In 2009, He received an NINDS K08 career development award to study developmental myelination and glial progenitor cell therapy.
His current research activities encompass both basic and clinical research, and he has served as site PI for several clinical trials. In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, he will co-direct Project 2 and contribute to Project 1 and Project 4.
Clinical Liaison
Joshua L. Bonkowsky, MD, PhD
University of Utah Health
Dr. Josh Bonkowsky serves as the Division Chief of Pediatric Neurology at the University of Utah. Dr. Boknowksy is also an associate professor of Pediatric Neurology at the University of Utah.
He completed his undergraduate training at Harvard University. Hobtained his MD and PhD degrees at the University of California, San Diego, and did his Pediatrics and Neurology/Pediatric Neurology training at the University of Utah and Boston Children's Hospital.
Dr. Bonkowsky is engaged in both clinical and basic science studies. His clinical studies are focused on understanding the clinical features of leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating the genetics of leukodystrophies, using both local (Utah Population Database) and national databases, to understand the genetic and medical impacts of these disorders.
Program Manager
Omar S. Sherbini, MPH
Clinical research ADMINISTRATIVE MANAGER
Children’s Hospital of Philadelphia
Omar Sherbini is the Program Manager for the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and also serves as a Clinical Research Program Manager within the Leukodystrophy Center at Children’s Hospital of Philadelphia, where he oversees a team of clinical research coordinators, technicians, and scientists working on various biorepository and natural history studies.
Omar holds a Master of Public Health (MPH) degree from the Johns Hopkins Bloomberg School of Public Health, with a concentration in infectious diseases. He began his scientific career in the Institute for Cell Engineering at Johns Hopkins University, where he investigated stroke pathophysiology and neuroprotective agents in animal models.
Advocacy Committee
ERICA BARNES, MS, CCC-SLP
glia-ctn advocacy committee chair
EXECUTIVE DIRECTOR, MINNESOTA RARE DISEASE ADVISORY COUNCIL
Erica Barnes is the current GLIA-CTN Advocacy Committee Chair, and also serves as Executive Director of the Minnesota Rare Disease Advisory Council. In 2010, when Erica tragically lost her young daughter, Chloe, to metachromatic leukodystrophy (MLD), a rare disease, Erica found herself in the role of rare disease advocate. She has been active in the advocacy community for over a dozen years, championing policies related to timely diagnosis, appropriate care, and effective treatments.
Erica began her professional career as a speech-language pathologist in the healthcare setting. Following the death of her daughter, Chloe, in 2010 she co-founded Chloe’s Fight Rare Disease Foundation with her husband Philip. Through her advocacy work she has represented the National Organization for Rare Disorders (NORD) as a Minnesota state ambassador, has provided public testimony at the federal level in support of newborn screening, and frequently speaks at national conferences and contributes to publications focused on rare diseases.
MELODY KISOR, MS
GLIA-CTN ADVOCACY COMMITTEE CO-CHAIR
DIRECTOR OF PATIENT ENGAGEMENT, CURE LBSL
Melody Kisor, MS is the current GLIA-CTN Advocacy Committee Co-Chair, and also serves as Director of Patient Engagement for Cure LBSL (formerly “A Cure For Ellie”). This position is funded by a Chan Zuckerberg Initiative – Rare As One grant, and has allowed the foundation to expand its reach and mission to international levels. Melody’s role includes creating and curating patient resources, FDA advocacy, and serving as a liaison between patients, clinicians, and researchers.
Melody earned a Master of Science in Biomedical Ethics with a concentration in maternal/child and genetic ethics from Albany Medical College. She also holds a BA in Interdisciplinary Health Studies from Hampshire College, with concurrent coursework at the University of Massachusetts Amherst Graduate School of Public Health. She also holds a specialized certificate in Perinatal Health Education from the University of California San Diego (UCSD).
The majority of Melody’s career has been spent in public health, including birth defects research/surveillance and perinatal health education. Melody first heard the word “leukodystrophy” when her oldest brother was diagnosed with an adult-onset form of unknown etiology. She heard it again when a neighborhood child was diagnosed with LBSL. That connection brought her back into the leukodystrophy world, where she now uses her bioethics skills to amplify the patient/caregiver voice.
Melody now serves as the GLIA-CTN Advocacy Committee Co-Chair, and previously led the GLIA-CTN Patient Registry Workgroup Subcommittee. She also represents Cure LBSL at the United Leukodystrophy Foundation’s advocacy meetings, as well as other rare disease events.
Data Integration Core
Richard Aplenc, MD, PhD, MSCE
Children’s Hospital of Philadelphia
Dr. Richard Aplenc is an Associate Professor of Pediatrics in the Department of Pediatrics and a core faculty member of the Center for Pediatric Clinical Effectiveness at the Children’s Hospital of Philadelphia (CHOP). In addition to his medical training, which he completed at the University of Virginia, he received an MSCE in Clinical Epidemiology and Biostatistics, as well as a PhD in Epidemiology, at the University of Pennsylvania. He is the Chief Clinical Research Officer for the Children’s Hospital of Philadelphia, serves as Section Chief of Hematologic Malignancies, and is the Co-Director of the Clinical Trials Science Award at the Universityof Pennsylvania. Dr. Aplenc's research is focused on acquisition and integration of EMR data into clinicalepidemiology studies. His extensive prior experience in developing automated EMR data extraction tools andsenior leadership role in the CHOP Research Institute position him to facilitate work of the Data Integration Core.
Alex Felmeister, PhD
Children’s Hospital of Philadelphia
Dr. Alex Felmeister is a Data Integration Supervisor in the Department of Biomedical and Health Informatics (DBHi) at Children’s Hospital of Philadelphia. Alex joined DBHi in 2008 as a data integration analyst after completing his Master’s in Science in Information Systems from Drexel University. As Enterprise Informatics Supervisor, he leads the effort in the development, implementation and integration of the informatics infrastructure designed to support complex biorepositories for both specific translational research projects and cross-institutional efforts. From 2008 to 2012, Alex served as the primary liaison for biomedical informatics and the Research Institute’s Center for Childhood Cancer Research where he lead the implementation of the Cancer Center’s Clinical Trials Management System (CTMS) and its clinical systems integrations. In addition to his post-graduate degree, Alex received a bachelor's in communications and theater with a minor in finance from Temple University and completed his doctorate at Drexel University in Information Science and Informatics.
Robert Grundmeier, MD
Children’s Hospital of Philadelphia
Robert Grundmeier, MD is a core faculty member at the Center for Pediatric Clinical Effectiveness (CPCE) at the Children's Hospital of Philadelphia, an attending physician and director of clinical informatics in the Department of Biomedical and Health Informatics, and an assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Dr. Grundmeier’s informatics work focuses on the expansion of the electronic health record (EHR) interface to deliver interventions and decision support directly to healthcare providers within the clinical setting. He is board certified in clinical informatics and is considered a national expert in the repurposing of clinical data for secondary use in clinical and genomics Dr. Grundmeier is also a founding member of the Pediatric Research Consortium (PeRC), the primary care practice-based research network at The Children's Hospital of Philadelphia.
Abbas F. Jawad, PhD, MSc
Children’s Hospital of Philadelphia
Dr. Abbas Jawad is the Director of Biostatistics Core in the Center for Human Phenomic Science (CHPS) at the Children’s Hospital of Philadelphia. Dr. Jawad has more than 20 years of experience designing, analyzing, and reporting medical research studies and clinical trials. He served as a co-investigator in numerous research studies covering a variety of child illnesses such as diabetes, sickle cell, immunology, infections, and mental illnesses, and has more than 100 publications in the field of clinical research.
Justine Shults, PhD, MS
Children’s hospital of Philadelphia
Dr. Justine Shults, is a Professor of Biostatistics in the Department of Biostatistics,Epidemiology and Informatics at the University of Pennsylvania. She also serves as the faculty director of the Biostatistics and Data Management Core (BDMC) at the Children’s Hospital of Philadelphia.
Prior to coming to Penn, she was a faculty member at the Center for Pediatric Research, a joint program of Eastern Virginia Medical School and the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, where she was involved in clinical trials and community based intervention studies. Her methodological research focuses on the development of improved statistical approaches for the analysis of longitudinal data, with a more recent focus on discrete longitudinal data. She was funded by the National Science Foundation and was the principal investigator of a completed NIH funded R01 project that developed improved approaches for longitudinal analysis of data from diverse populations (LADP).
She is the lead author on a book that stems from the LADP project. She is currently the principal investigator of the NIH-funded Renal and Urologic Biostatistics Training Grant (T32DK060455) that aims to train graduate students in the Penn biostatistics program to be rigorous and independent academic investigators who use biostatistics to address issues in kidney and urology research.